Mutation screening and identification of a sequence variation in the human ob gene coding region

Robert V. Considine, Eileen L. Considine, Charlene J. Williams, Mark R. Nyce, Peili Zhang, Irina Opentanova, Joanna P. Ohannesian, Jerzy W. Kolaczynski, Thomas L. Bauer, John H. Moore, Jose F. Caro

    Research output: Contribution to journalArticlepeer-review

    82 Scopus citations

    Abstract

    In the present study mRNA from the subcutaneous adipose tissue of 68 obese (defined as a body mass index ≥ 27.3 for men and ≥ 27.8 for women) and 38 lean subjects was screened for mutations in the ob gene coding region. No mutations in the coding region of the human ob gene were detected using Conformation Sensitive Gel Electrophoresis in 105 subjects. A first base substitution (G to A) was detected in one individual, which changed a valine to a methionine at position 94. The mRNA of all subjects contained the codon for glutamine-49, ruling out the possibility of a splice defect occurring during the removal of intron 2. These observations suggest that defects in the ob gene sequence itself are not the primary cause of obesity in humans.

    Original languageEnglish (US)
    Pages (from-to)735-739
    Number of pages5
    JournalBiochemical and Biophysical Research Communications
    Volume220
    Issue number3
    DOIs
    StatePublished - Mar 27 1996

    All Science Journal Classification (ASJC) codes

    • Biophysics
    • Biochemistry
    • Molecular Biology
    • Cell Biology

    Fingerprint

    Dive into the research topics of 'Mutation screening and identification of a sequence variation in the human ob gene coding region'. Together they form a unique fingerprint.

    Cite this